A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3655051



Internal ID18953332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4823046..5030133hg38UCSC Ensembl
Innerchr7:4862677..5069764hg19UCSC Ensembl
Innerchr7:4829203..5036290hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38207088
hg19207088
hg18207088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1033855
Supporting Variants
Samples
Known GenesMMD2, PAPOLB, RADIL, RNF216P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3655051
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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